Saturday, October 4, 2014

Busy Busy Bee!!

Over the last month I have been super busy.  I had the great honor of being able to attend a Patient Advocacy Summit in Huntington Beach, California with a fabulous foundation called Global Genes. They also had me as their guest at the 2014 Tribute To Champions of Hope Gala.  I learned so much and met so many people that have been an inspiration to me. It has renewed my energy and hope to continue to pursue my dream of raising awareness for SYNGAP. http://globalgenes.org/ 
 
 
 
Another parent and myself have become the co-founders of our new non-profit called Bridge The Gap - SYNGAP Education and Research Foundation.  Our mission is to serve, educate and fund research for families coping with the effects of SYNGAP mutations. We have an outstanding group of individuals on our board that are from all walks of life and are driven to help children and families effected by SYNGAP. We are in the beginning stages and are in the process of filing for our 501c status.  I am so excited that doors are opening for us and know in my heart of hearts that when we are 100% established that we will be able to make a difference in lives of those who are looking for answers.  I will always keep hope for my own son to be able to take advantage of any therapies or cures found, but if not it will all be worth it to be able to help those we can.   I look forward to every day to see what new and exciting things are going to happen. 
 
I have to admit it has been very difficult to change my attitude and I sometimes still have my off days just like everyone.  A friend of mine Carrie Ostra, who I have been working with through Global Genes said something to me that has resonated in me since.  Just a quick back story first.  Carrie lost her little girl to a rare genetic disorder called Gaucher's disease at the age of 3.  I met her for the first time in person in California.  I told her how much she inspired me and how she had lived so positively and continued to fight after she had lost her precious baby.  She looked at me and said these very simple words, "What is the alternative?"  I was floored.  She was right.  What is the alternative to living positive?  It's crazy how those four words changed my thinking and still wondering why it took me so long to see it.  Granted, I still have me days that are hard and I still have those little pity parties, but I remember those words of a mom who lost her baby who is driven by living her legacy by helping others.  How fulfilling!  God uses people in mysterious ways and He spoke loud and clear to me through her.  I hope that I can pass that kind of attitude on to others through what our foundation is trying to do.  I pray that the good Lord above blesses it and allows us to bless others though accomplishing our mission.  Please check out my friend Carrie's Little Miss Hannah's Foundation, named after her daughter.  Beckett also carries the gene mutation for Gaucher's Type I.  http://littlemisshannah.org/
 
 
Little Mr. B has been a busy, busy bee also.  He has a runner with the IRUN4 foundation who ran a marathon for him last weekend.  She did so good and we are so proud of her.  Kricia is an awesome friend and runner!  Of course you can see here that he is sporting the shirt she sent him. 

Beckett has been having trouble lately with his behavior and we believe that his medication will need to be changing again.  We went and saw the Pediatric Neurologist this last week. He will be doing research on SYNGAP children at Texas Children's and he is also a board member with our foundation.   He has ordered two MRI's and a new EEG for Beckett.  One type of MRI is new technology and can actually see the connections being made in the brain when "neurons talk".  I am curious to see what the results will be.  I am hoping and praying that Beckett's behavior begins to get better.  He has been scratching, biting and screaming consistently and especially when he doesn't get what he wants.  On the up side he has learned how to navigate and play simple games on the Ipad.  He seems to love it!!